Canonical Allele Identifier: CA4181194

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257926
• ClinVar RCV Id: RCV000253318 ; RCV000342893
• dbSNP Id: rs28370951
• ExAC: 7:21765494 G / A
• gnomAD v2: 7-21765494-G-A
• gnomAD v3: 7-21725876-G-A
• gnomAD v4: 7-21725876-G-A
• MyVariant Identifiers: chr7:g.21765494G>A (hg19) ; chr7:g.21725876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21725876G>A , CM000669.2:g.21725876G>A	GRCh38
NC_000007.13:g.21765494G>A , CM000669.1:g.21765494G>A	GRCh37
NC_000007.12:g.21732019G>A	NCBI36
NG_012886.2:g.187662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.7332G>A MANE Select	ENSP00000475939.1:p.Pro2444=
ENST00000328843.10:c.7353G>A	ENSP00000330671.7:p.Pro2451=
ENST00000409508.7:c.7332G>A	ENSP00000475939.1:p.Pro2444=
ENST00000620169.4:c.7353G>A	ENSP00000481693.1:p.Pro2451=
NM_001277115.1:c.7332G>A	NP_001264044.1:p.Pro2444=
NM_001277115.2:c.7332G>A MANE Select	NP_001264044.1:p.Pro2444=